ClinVar Miner

List of variants studied for Fucosidosis by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 369
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HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg) rs13551 0.26707
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp) rs2070955 0.10031
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852 0.00944
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe) rs143691289 0.00371
NM_000147.5(FUCA1):c.778G>A (p.Val260Ile) rs665 0.00227
NM_000147.5(FUCA1):c.389+14C>T rs553138426 0.00134
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=) rs80358198 0.00128
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00127
NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln) rs145603001 0.00109
NM_000147.5(FUCA1):c.969+5G>C rs115939152 0.00101
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=) rs370453371 0.00047
NM_000147.5(FUCA1):c.969+18T>A rs140246387 0.00041
NM_000147.5(FUCA1):c.1274G>A (p.Gly425Glu) rs150422575 0.00037
NM_000147.5(FUCA1):c.502T>C (p.Leu168=) rs147389792 0.00033
NM_000147.5(FUCA1):c.260C>T (p.Pro87Leu) rs138378067 0.00022
NM_000147.5(FUCA1):c.525-8T>G rs41268125 0.00021
NM_000147.5(FUCA1):c.339C>T (p.Arg113=) rs558060888 0.00019
NM_000147.5(FUCA1):c.639A>G (p.Pro213=) rs200409671 0.00015
NM_000147.5(FUCA1):c.405G>A (p.Thr135=) rs145153173 0.00014
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys) rs201209052 0.00012
NM_000147.5(FUCA1):c.1102G>A (p.Ala368Thr) rs374427540 0.00011
NM_000147.5(FUCA1):c.1359C>T (p.Pro453=) rs147866670 0.00011
NM_000147.5(FUCA1):c.532C>T (p.Arg178Cys) rs149540896 0.00011
NM_000147.5(FUCA1):c.34G>T (p.Gly12Cys) rs530854024 0.00010
NM_000147.5(FUCA1):c.1016T>C (p.Ile339Thr) rs775385097 0.00009
NM_000147.5(FUCA1):c.1026T>G (p.Thr342=) rs771696380 0.00009
NM_000147.5(FUCA1):c.825A>T (p.Gly275=) rs199675692 0.00009
NM_000147.5(FUCA1):c.1077G>A (p.Gly359=) rs777813005 0.00008
NM_000147.5(FUCA1):c.11C>T (p.Pro4Leu) rs747889861 0.00008
NM_000147.5(FUCA1):c.484C>T (p.Arg162Trp) rs375270869 0.00008
NM_000147.5(FUCA1):c.970-20A>G rs371684711 0.00008
NM_000147.5(FUCA1):c.1A>G (p.Met1Val) rs558338123 0.00007
NM_000147.5(FUCA1):c.37C>T (p.Pro13Ser) rs569701574 0.00007
NM_000147.5(FUCA1):c.861C>T (p.Ser287=) rs200962094 0.00006
NM_000147.5(FUCA1):c.923G>A (p.Arg308His) rs372537257 0.00006
NM_000147.5(FUCA1):c.1089C>T (p.Ser363=) rs1443768545 0.00005
NM_000147.5(FUCA1):c.1178C>T (p.Ser393Leu) rs149168482 0.00005
NM_000147.5(FUCA1):c.1179G>A (p.Ser393=) rs370306169 0.00005
NM_000147.5(FUCA1):c.389+20G>A rs1199190783 0.00005
NM_000147.5(FUCA1):c.662+10T>A rs376168280 0.00005
NM_000147.5(FUCA1):c.70G>A (p.Ala24Thr) rs533240590 0.00005
NM_000147.5(FUCA1):c.936G>A (p.Leu312=) rs140932886 0.00005
NM_000147.5(FUCA1):c.397G>C (p.Val133Leu) rs1204848910 0.00004
NM_000147.5(FUCA1):c.517C>T (p.Arg173Trp) rs768069468 0.00004
NM_000147.5(FUCA1):c.649G>A (p.Asp217Asn) rs781345107 0.00004
NM_000147.5(FUCA1):c.769-18T>C rs200071318 0.00004
NM_000147.5(FUCA1):c.998G>A (p.Gly333Asp) rs1013512148 0.00004
NM_000147.5(FUCA1):c.1041T>C (p.Ile347=) rs1230687658 0.00003
NM_000147.5(FUCA1):c.1160+9T>C rs778966131 0.00003
NM_000147.5(FUCA1):c.1190C>T (p.Ala397Val) rs766121368 0.00003
NM_000147.5(FUCA1):c.1192A>G (p.Ile398Val) rs548070711 0.00003
NM_000147.5(FUCA1):c.1335C>G (p.Pro445=) rs372223382 0.00003
NM_000147.5(FUCA1):c.1360G>A (p.Ala454Thr) rs377360830 0.00003
NM_000147.5(FUCA1):c.189C>T (p.His63=) rs771207386 0.00003
NM_000147.5(FUCA1):c.39C>T (p.Pro13=) rs1429674319 0.00003
NM_000147.5(FUCA1):c.492G>C (p.Leu164Phe) rs754110650 0.00003
NM_000147.5(FUCA1):c.524+12G>C rs368406378 0.00003
NM_000147.5(FUCA1):c.525-13T>C rs748293104 0.00003
NM_000147.5(FUCA1):c.67G>C (p.Gly23Arg) rs551560114 0.00003
NM_000147.5(FUCA1):c.1017T>C (p.Ile339=) rs560947454 0.00002
NM_000147.5(FUCA1):c.1035A>T (p.Gly345=) rs150532144 0.00002
NM_000147.5(FUCA1):c.1123T>C (p.Trp375Arg) rs984479234 0.00002
NM_000147.5(FUCA1):c.1149A>T (p.Thr383=) rs1474078454 0.00002
NM_000147.5(FUCA1):c.1152A>G (p.Thr384=) rs531818587 0.00002
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter) rs118204450 0.00002
NM_000147.5(FUCA1):c.1347C>A (p.Pro449=) rs750761317 0.00002
NM_000147.5(FUCA1):c.423C>T (p.Gly141=) rs1350688978 0.00002
NM_000147.5(FUCA1):c.438G>A (p.Pro146=) rs766878135 0.00002
NM_000147.5(FUCA1):c.524+17G>T rs200097772 0.00002
NM_000147.5(FUCA1):c.525-20G>A rs180788085 0.00002
NM_000147.5(FUCA1):c.662+8A>G rs371032301 0.00002
NM_000147.5(FUCA1):c.6G>A (p.Arg2=) rs1431712214 0.00002
NM_000147.5(FUCA1):c.919C>T (p.Arg307Cys) rs773719849 0.00002
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr) rs776913133 0.00001
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala) rs769788583 0.00001
NM_000147.5(FUCA1):c.1032T>C (p.Asp344=) rs1232508413 0.00001
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg) rs749269943 0.00001
NM_000147.5(FUCA1):c.1082G>T (p.Trp361Leu) rs864309551 0.00001
NM_000147.5(FUCA1):c.1092C>T (p.Ile364=) rs1341681556 0.00001
NM_000147.5(FUCA1):c.111C>T (p.Tyr37=) rs754703239 0.00001
NM_000147.5(FUCA1):c.1126C>T (p.Arg376Trp) rs548735209 0.00001
NM_000147.5(FUCA1):c.1160+17G>C rs929406340 0.00001
NM_000147.5(FUCA1):c.1160+20G>A rs1326350955 0.00001
NM_000147.5(FUCA1):c.1161-5C>T rs1324596939 0.00001
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg) rs80358199 0.00001
NM_000147.5(FUCA1):c.1251A>C (p.Ser417=) rs897246170 0.00001
NM_000147.5(FUCA1):c.1260+14G>A rs777928698 0.00001
NM_000147.5(FUCA1):c.1260+7A>C rs771229488 0.00001
NM_000147.5(FUCA1):c.1260+8G>A rs749532205 0.00001
NM_000147.5(FUCA1):c.1261-18C>T rs1639128770 0.00001
NM_000147.5(FUCA1):c.12G>C (p.Pro4=) rs775815377 0.00001
NM_000147.5(FUCA1):c.1323C>T (p.Phe441=) rs1325834260 0.00001
NM_000147.5(FUCA1):c.1326C>T (p.Ile442=) rs924511473 0.00001
NM_000147.5(FUCA1):c.137C>G (p.Ser46Cys) rs367641377 0.00001
NM_000147.5(FUCA1):c.144G>A (p.Pro48=) rs1383407330 0.00001
NM_000147.5(FUCA1):c.15G>A (p.Gly5=) rs746017062 0.00001
NM_000147.5(FUCA1):c.193G>A (p.Gly65Ser) rs763135982 0.00001
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter) rs80358196 0.00001
NM_000147.5(FUCA1):c.291C>T (p.Tyr97=) rs140858903 0.00001
NM_000147.5(FUCA1):c.294G>C (p.Pro98=) rs773469453 0.00001
NM_000147.5(FUCA1):c.297C>T (p.Pro99=) rs200756413 0.00001
NM_000147.5(FUCA1):c.30G>C (p.Pro10=) rs886046326 0.00001
NM_000147.5(FUCA1):c.312C>G (p.Ala104=) rs1480661028 0.00001
NM_000147.5(FUCA1):c.324G>T (p.Pro108=) rs1266224420 0.00001
NM_000147.5(FUCA1):c.350C>T (p.Pro117Leu) rs777581303 0.00001
NM_000147.5(FUCA1):c.351G>T (p.Pro117=) rs752603565 0.00001
NM_000147.5(FUCA1):c.375G>A (p.Gln125=) rs1411389016 0.00001
NM_000147.5(FUCA1):c.385G>T (p.Ala129Ser) rs765520069 0.00001
NM_000147.5(FUCA1):c.388A>G (p.Lys130Glu) rs980153372 0.00001
NM_000147.5(FUCA1):c.389+15G>C rs1395597191 0.00001
NM_000147.5(FUCA1):c.389+18G>A rs764568139 0.00001
NM_000147.5(FUCA1):c.389+6T>C rs577790391 0.00001
NM_000147.5(FUCA1):c.390-20T>C rs1460987220 0.00001
NM_000147.5(FUCA1):c.404C>T (p.Thr135Met) rs779017131 0.00001
NM_000147.5(FUCA1):c.417C>T (p.His139=) rs753934512 0.00001
NM_000147.5(FUCA1):c.445G>T (p.Val149Leu) rs747625633 0.00001
NM_000147.5(FUCA1):c.45G>A (p.Leu15=) rs761603943 0.00001
NM_000147.5(FUCA1):c.465C>T (p.Ser155=) rs563341708 0.00001
NM_000147.5(FUCA1):c.471C>T (p.Asp157=) rs768657814 0.00001
NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln) rs372045495 0.00001
NM_000147.5(FUCA1):c.516C>G (p.Leu172=) rs752715443 0.00001
NM_000147.5(FUCA1):c.518G>A (p.Arg173Gln) rs148194937 0.00001
NM_000147.5(FUCA1):c.522G>T (p.Lys174Asn) rs1352828947 0.00001
NM_000147.5(FUCA1):c.525-3A>G rs766757100 0.00001
NM_000147.5(FUCA1):c.525-7G>C rs199820324 0.00001
NM_000147.5(FUCA1):c.533G>A (p.Arg178His) rs145537354 0.00001
NM_000147.5(FUCA1):c.54G>A (p.Leu18=) rs1263378070 0.00001
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter) rs997047045 0.00001
NM_000147.5(FUCA1):c.55_60dup (p.Leu20_Phe21insLeuLeu) rs899736238 0.00001
NM_000147.5(FUCA1):c.573A>G (p.Pro191=) rs1333506903 0.00001
NM_000147.5(FUCA1):c.654T>C (p.Leu218=) rs1205600842 0.00001
NM_000147.5(FUCA1):c.658A>C (p.Asn220His) rs755082816 0.00001
NM_000147.5(FUCA1):c.661del (p.Ser221fs) rs774846977 0.00001
NM_000147.5(FUCA1):c.662+12A>G rs1268116975 0.00001
NM_000147.5(FUCA1):c.662+9C>T rs1009553855 0.00001
NM_000147.5(FUCA1):c.663-11A>G rs759359539 0.00001
NM_000147.5(FUCA1):c.677T>G (p.Leu226Arg) rs770733586 0.00001
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter) rs776845108 0.00001
NM_000147.5(FUCA1):c.750C>T (p.Tyr250=) rs772678183 0.00001
NM_000147.5(FUCA1):c.759C>T (p.Ser253=) rs757698879 0.00001
NM_000147.5(FUCA1):c.781G>A (p.Val261Ile) rs749733115 0.00001
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter) rs587779399 0.00001
NM_000147.5(FUCA1):c.863T>G (p.Leu288Trp) rs758328076 0.00001
NM_000147.5(FUCA1):c.882G>C (p.Glu294Asp) rs1483687600 0.00001
NM_000147.5(FUCA1):c.903G>A (p.Lys301=) rs1639349703 0.00001
NM_000147.5(FUCA1):c.905T>C (p.Phe302Ser) rs774564918 0.00001
NM_000147.5(FUCA1):c.927C>T (p.Asp309=) rs1639347894 0.00001
NM_000147.5(FUCA1):c.933A>C (p.Ala311=) rs1035389960 0.00001
NM_000147.5(FUCA1):c.93C>T (p.Ala31=) rs771153989 0.00001
NM_000147.5(FUCA1):c.949G>A (p.Glu317Lys) rs779512930 0.00001
NM_000147.5(FUCA1):c.954A>G (p.Glu318=) rs767828761 0.00001
NM_000147.5(FUCA1):c.969+15G>A rs763085047 0.00001
NM_000147.5(FUCA1):c.9T>C (p.Ala3=) rs1265884392 0.00001
NC_000001.10:g.(?_24172205)_(24172683_?)dup
NC_000001.10:g.(?_24172205)_(24194776_?)del
NC_000001.10:g.(?_24172205)_(24194776_?)dup
NC_000001.10:g.(?_24175119)_(24175349_?)del
NC_000001.10:g.(?_24180830)_(24189781_?)del
NC_000001.10:g.(?_24186268)_(24186413_?)dup
NC_000001.10:g.(?_24191961)_(24194776_?)del
NC_000001.11:g.(?_23859778)_(23859923_?)del
NM_000147.5(FUCA1):c.1014C>T (p.Asn338=) rs2148438798
NM_000147.5(FUCA1):c.1035A>G (p.Gly345=)
NM_000147.5(FUCA1):c.1038G>C (p.Leu346=) rs778451235
NM_000147.5(FUCA1):c.1048A>G (p.Ile350Val) rs1380905344
NM_000147.5(FUCA1):c.1054C>T (p.Gln352Ter) rs1557506070
NM_000147.5(FUCA1):c.1057G>T (p.Glu353Ter) rs2521635192
NM_000147.5(FUCA1):c.1065T>C (p.Leu355=) rs1639195467
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter) rs864309551
NM_000147.5(FUCA1):c.1116C>T (p.Ser372=) rs2521634684
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000147.5(FUCA1):c.1131_1132delinsTT (p.Gln378Ter) rs2521634441
NM_000147.5(FUCA1):c.1134A>G (p.Gln378=) rs1395208337
NM_000147.5(FUCA1):c.1136G>C (p.Trp379Ser) rs2521634369
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln) rs80358195
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.5(FUCA1):c.1158A>G (p.Val386=) rs1194134430
NM_000147.5(FUCA1):c.1160+10_1160+14del rs2148438648
NM_000147.5(FUCA1):c.1160+16T>C rs2148438645
NM_000147.5(FUCA1):c.1161-17T>C rs1438011380
NM_000147.5(FUCA1):c.1161-19G>A rs779212890
NM_000147.5(FUCA1):c.1161-21GT[3] rs2521618931
NM_000147.5(FUCA1):c.1174G>A (p.Gly392Arg) rs1639135764
NM_000147.5(FUCA1):c.1180G>A (p.Ala394Thr) rs2521618643
NM_000147.5(FUCA1):c.1183G>A (p.Val395Ile) rs1570670906
NM_000147.5(FUCA1):c.1206G>A (p.Trp402Ter) rs1026833196
NM_000147.5(FUCA1):c.1209A>G (p.Pro403=) rs1446748566
NM_000147.5(FUCA1):c.1214A>T (p.Asn405Ile) rs2521617917
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter) rs764863416
NM_000147.5(FUCA1):c.1226A>T (p.Asn409Ile) rs1349221851
NM_000147.5(FUCA1):c.1236C>T (p.Ser412=) rs1310643655
NM_000147.5(FUCA1):c.1237C>T (p.Pro413Ser) rs776717041
NM_000147.5(FUCA1):c.1249T>G (p.Ser417Ala) rs2521617668
NM_000147.5(FUCA1):c.1260+14G>C rs777928698
NM_000147.5(FUCA1):c.1260+14_1260+15insGACTGACTAA rs571738393
NM_000147.5(FUCA1):c.1260+2T>A rs2521617594
NM_000147.5(FUCA1):c.1260+9G>A
NM_000147.5(FUCA1):c.1261-14T>A rs1374780942
NM_000147.5(FUCA1):c.1261-14T>C
NM_000147.5(FUCA1):c.1261-1G>A rs2521616187
NM_000147.5(FUCA1):c.1266A>G (p.Thr422=) rs764162683
NM_000147.5(FUCA1):c.1269G>A (p.Met423Ile)
NM_000147.5(FUCA1):c.126G>A (p.Pro42=) rs1440402501
NM_000147.5(FUCA1):c.1272G>T (p.Leu424=) rs2148436980
NM_000147.5(FUCA1):c.1281A>G (p.Gln427=) rs2521615968
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs) rs1186488065
NM_000147.5(FUCA1):c.1286A>G (p.Asp429Gly) rs2521615911
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs) rs1334038475
NM_000147.5(FUCA1):c.1295G>A (p.Trp432Ter) rs1639127458
NM_000147.5(FUCA1):c.1309G>C (p.Asp437His) rs1639125891
NM_000147.5(FUCA1):c.1320C>G (p.Leu440=) rs2521615640
NM_000147.5(FUCA1):c.1330C>G (p.Leu444Val)
NM_000147.5(FUCA1):c.1378A>G (p.Ile460Val) rs774128532
NM_000147.5(FUCA1):c.1384C>A (p.Leu462Met) rs770042348
NM_000147.5(FUCA1):c.1386G>C (p.Leu462=) rs2148436874
NM_000147.5(FUCA1):c.1392A>T (p.Gly464=) rs2148436869
NM_000147.5(FUCA1):c.153C>G (p.Ala51=) rs1318621025
NM_000147.5(FUCA1):c.15G>T (p.Gly5=) rs746017062
NM_000147.5(FUCA1):c.162C>T (p.Asp54=) rs2521761165
NM_000147.5(FUCA1):c.167_170dup (p.Lys57fs) rs1263748674
NM_000147.5(FUCA1):c.168C>T (p.Ala56=)
NM_000147.5(FUCA1):c.16A>G (p.Met6Val) rs1325330166
NM_000147.5(FUCA1):c.177G>C (p.Gly59=) rs1386403634
NM_000147.5(FUCA1):c.185T>G (p.Ile62Ser) rs2148450635
NM_000147.5(FUCA1):c.187C>T (p.His63Tyr) rs2148450632
NM_000147.5(FUCA1):c.191G>A (p.Trp64Ter)
NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp) rs1353778985
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu) rs2521760820
NM_000147.5(FUCA1):c.209C>T (p.Pro70Leu) rs770492031
NM_000147.5(FUCA1):c.210C>T (p.Pro70=)
NM_000147.5(FUCA1):c.212C>T (p.Ala71Val) rs1224396509
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter) rs1639662981
NM_000147.5(FUCA1):c.23C>A (p.Ser8Ter) rs550501788
NM_000147.5(FUCA1):c.249C>T (p.Gly83=) rs1306610349
NM_000147.5(FUCA1):c.255G>A (p.Gly85=) rs745442726
NM_000147.5(FUCA1):c.266A>T (p.Tyr89Phe) rs2521760153
NM_000147.5(FUCA1):c.27G>C (p.Arg9=) rs2521762900
NM_000147.5(FUCA1):c.291C>G (p.Tyr97Ter) rs140858903
NM_000147.5(FUCA1):c.293dup (p.Pro99fs) rs2521759907
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.5(FUCA1):c.30G>A (p.Pro10=) rs886046326
NM_000147.5(FUCA1):c.315C>T (p.Asp105=) rs1189226253
NM_000147.5(FUCA1):c.31G>T (p.Ala11Ser) rs1455700210
NM_000147.5(FUCA1):c.33G>T (p.Ala11=) rs751151042
NM_000147.5(FUCA1):c.345C>T (p.Phe115=) rs1228353100
NM_000147.5(FUCA1):c.355_364del (p.Glu119fs) rs1330811896
NM_000147.5(FUCA1):c.360G>T (p.Trp120Cys) rs758745364
NM_000147.5(FUCA1):c.377C>T (p.Ala126Val) rs780117609
NM_000147.5(FUCA1):c.389+13C>A rs2521758616
NM_000147.5(FUCA1):c.389+14C>G rs553138426
NM_000147.5(FUCA1):c.389+18del rs2521758561
NM_000147.5(FUCA1):c.389+2T>G
NM_000147.5(FUCA1):c.389+4A>C rs2521758677
NM_000147.5(FUCA1):c.390-11G>C rs2521746350
NM_000147.5(FUCA1):c.390-6C>T rs2521746306
NM_000147.5(FUCA1):c.390-9T>C rs769661674
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter) rs781230182
NM_000147.5(FUCA1):c.393T>C (p.Tyr131=) rs781230182
NM_000147.5(FUCA1):c.400T>G (p.Leu134Val) rs2521746185
NM_000147.5(FUCA1):c.402G>A (p.Leu134=) rs143691289
NM_000147.5(FUCA1):c.404C>G (p.Thr135Arg) rs779017131
NM_000147.5(FUCA1):c.422G>C (p.Gly141Ala) rs753232669
NM_000147.5(FUCA1):c.42G>A (p.Ala14=) rs2521762660
NM_000147.5(FUCA1):c.437C>G (p.Pro146Arg) rs2228424
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter) rs2521745643
NM_000147.5(FUCA1):c.460_475del (p.Asn154fs) rs2521745475
NM_000147.5(FUCA1):c.462C>T (p.Asn154=) rs2521745610
NM_000147.5(FUCA1):c.46T>C (p.Leu16=) rs2521762607
NM_000147.5(FUCA1):c.46_48dup (p.Leu20_Phe21insLeu) rs750020102
NM_000147.5(FUCA1):c.474G>A (p.Val158=) rs1467803563
NM_000147.5(FUCA1):c.489T>C (p.Asp163=) rs1639604269
NM_000147.5(FUCA1):c.48GCT[5] (p.Leu20dup) rs756742678
NM_000147.5(FUCA1):c.4C>A (p.Arg2=) rs2070955
NM_000147.5(FUCA1):c.4C>G (p.Arg2Gly) rs2070955
NM_000147.5(FUCA1):c.510A>G (p.Thr170=)
NM_000147.5(FUCA1):c.519G>A (p.Arg173=) rs2521745176
NM_000147.5(FUCA1):c.51G>A (p.Leu17=) rs2521762531
NM_000147.5(FUCA1):c.524+14G>A rs2521744984
NM_000147.5(FUCA1):c.524+18G>T rs2148449061
NM_000147.5(FUCA1):c.524+4_524+5del rs1158652644
NM_000147.5(FUCA1):c.524+7G>A rs2521745073
NM_000147.5(FUCA1):c.524+9C>G
NM_000147.5(FUCA1):c.524+9C>T rs372309250
NM_000147.5(FUCA1):c.525-10T>C
NM_000147.5(FUCA1):c.525-15_525-14del rs2521731925
NM_000147.5(FUCA1):c.525-15del
NM_000147.5(FUCA1):c.525-19TTCTGTTT[3] rs864309552
NM_000147.5(FUCA1):c.525-9_525-5del rs759886522
NM_000147.5(FUCA1):c.541C>T (p.Leu181=) rs760734726
NM_000147.5(FUCA1):c.543A>G (p.Leu181=) rs2521731449
NM_000147.5(FUCA1):c.557T>A (p.Leu186Ter) rs776324076
NM_000147.5(FUCA1):c.55C>T (p.Leu19=)
NM_000147.5(FUCA1):c.563G>A (p.Trp188Ter) rs760219584
NM_000147.5(FUCA1):c.574C>G (p.Leu192Val) rs2148447710
NM_000147.5(FUCA1):c.580C>A (p.Leu194Ile) rs1639545879
NM_000147.5(FUCA1):c.585T>G (p.Leu195=) rs1639545700
NM_000147.5(FUCA1):c.5G>A (p.Arg2Gln) rs1175719570
NM_000147.5(FUCA1):c.606A>C (p.Lys202Asn) rs2521730888
NM_000147.5(FUCA1):c.607del (p.Thr203fs) rs2521730880
NM_000147.5(FUCA1):c.609A>G (p.Thr203=) rs1639545148
NM_000147.5(FUCA1):c.610_614del (p.Gln204fs) rs2521730814
NM_000147.5(FUCA1):c.614A>G (p.His205Arg) rs2148447684
NM_000147.5(FUCA1):c.624T>C (p.Ser208=)
NM_000147.5(FUCA1):c.655G>T (p.Val219Phe) rs1639544116
NM_000147.5(FUCA1):c.657T>C (p.Val219=) rs2521730392
NM_000147.5(FUCA1):c.662+3A>G rs2521730319
NM_000147.5(FUCA1):c.662_662+8del rs766794815
NM_000147.5(FUCA1):c.663-11_663-10del rs1249565820
NM_000147.5(FUCA1):c.663-1G>C
NM_000147.5(FUCA1):c.663-3C>T rs1639471646
NM_000147.5(FUCA1):c.66C>T (p.Leu22=) rs2521762357
NM_000147.5(FUCA1):c.671del (p.Pro224fs) rs2148446020
NM_000147.5(FUCA1):c.679_683del (p.Ile227fs) rs1267309141
NM_000147.5(FUCA1):c.679_683dup (p.Trp228Ter) rs1267309141
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter) rs1441298926
NM_000147.5(FUCA1):c.6G>C (p.Arg2=) rs1431712214
NM_000147.5(FUCA1):c.729A>G (p.Thr243=) rs2521711939
NM_000147.5(FUCA1):c.72G>A (p.Ala24=) rs1639666474
NM_000147.5(FUCA1):c.738T>G (p.Leu246=) rs2521711828
NM_000147.5(FUCA1):c.755A>G (p.Asp252Gly) rs779515820
NM_000147.5(FUCA1):c.75C>T (p.Ala25=)
NM_000147.5(FUCA1):c.768+19T>A rs1270291858
NM_000147.5(FUCA1):c.768+1G>A rs1639468949
NM_000147.5(FUCA1):c.768+1G>T rs1639468949
NM_000147.5(FUCA1):c.768+2T>C
NM_000147.5(FUCA1):c.768+8A>G rs752291671
NM_000147.5(FUCA1):c.769-14C>A rs2521678571
NM_000147.5(FUCA1):c.769-2A>C rs1250037816
NM_000147.5(FUCA1):c.769-4T>C rs2521678506
NM_000147.5(FUCA1):c.775G>T (p.Val259Leu) rs779573023
NM_000147.5(FUCA1):c.777G>A (p.Val259=) rs2521678415
NM_000147.5(FUCA1):c.783A>G (p.Val261=) rs2521678344
NM_000147.5(FUCA1):c.7G>A (p.Ala3Thr) rs61996282
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000147.5(FUCA1):c.7del (p.Ala3fs) rs1639669672
NM_000147.5(FUCA1):c.80C>A (p.Ser27Ter) rs1484147379
NM_000147.5(FUCA1):c.810del (p.Cys271fs) rs1557510081
NM_000147.5(FUCA1):c.81G>C (p.Ser27=) rs1639666220
NM_000147.5(FUCA1):c.843T>C (p.Asp281=) rs942667250
NM_000147.5(FUCA1):c.849C>A (p.Phe283Leu) rs754452752
NM_000147.5(FUCA1):c.84G>T (p.Val28=) rs2521762137
NM_000147.5(FUCA1):c.858G>A (p.Gln286=)
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu) rs1639666097
NM_000147.5(FUCA1):c.871C>G (p.His291Asp) rs2148442832
NM_000147.5(FUCA1):c.89G>C (p.Arg30Pro) rs1639666007
NM_000147.5(FUCA1):c.8C>T (p.Ala3Val) rs769555043
NM_000147.5(FUCA1):c.908C>T (p.Ser303Phe) rs750083315
NM_000147.5(FUCA1):c.910T>C (p.Trp304Arg) rs2148442806
NM_000147.5(FUCA1):c.917A>G (p.Tyr306Cys) rs749790121
NM_000147.5(FUCA1):c.917A>T (p.Tyr306Phe) rs749790121
NM_000147.5(FUCA1):c.91G>A (p.Ala31Thr) rs774539460
NM_000147.5(FUCA1):c.920G>A (p.Arg307His) rs1005744482
NM_000147.5(FUCA1):c.933A>G (p.Ala311=) rs1035389960
NM_000147.5(FUCA1):c.943G>A (p.Val315Ile) rs746590345
NM_000147.5(FUCA1):c.945T>C (p.Val315=)
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) rs201499886
NM_000147.5(FUCA1):c.957T>C (p.Ser319=)
NM_000147.5(FUCA1):c.969+11C>A rs2148442736
NM_000147.5(FUCA1):c.969+1G>T rs1570679652
NM_000147.5(FUCA1):c.969+5G>A rs115939152
NM_000147.5(FUCA1):c.969G>A (p.Ser323=) rs759796952
NM_000147.5(FUCA1):c.970-12T>C rs2521636389
NM_000147.5(FUCA1):c.970-17G>A rs2521636395
NM_000147.5(FUCA1):c.970-18T>C rs2521636402
NM_000147.5(FUCA1):c.970-6C>T rs2521636364
NM_000147.5(FUCA1):c.970-7T>C rs1414509429
NM_000147.5(FUCA1):c.971A>G (p.Glu324Gly) rs2521636319

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